ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.845-18T>C

gnomAD frequency: 0.01342  dbSNP: rs116746214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439055 SCV000517799 benign not specified 2016-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521026 SCV001730274 benign COG4-congenital disorder of glycosylation 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502499 SCV002811371 likely benign COG4-congenital disorder of glycosylation; Microcephalic osteodysplastic dysplasia, Saul-Wilson type 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709986 SCV005253876 benign not provided criteria provided, single submitter not provided

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